Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
LOC650623	650623	broad.mit.edu	37	10	81443821	81443821	+	RNA	SNP	C	G	G	rs150975459	by1000genomes	TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr10:81443821C>G	uc010qlu.1	+	1		c.1091C>G				NR_027512				Homo sapiens BEN domain containing 3 pseudogene (LOC650623), non-coding RNA.												0						GCAGCACCATCGCCTCAGACC	0.612													3	15					0	0	0.014758	0	0
KIAA1377	57562	broad.mit.edu	37	11	101857730	101857730	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr11:101857730A>G	uc001pgm.2	+	9	3472	c.3202A>G	c.(3202-3204)AAG>GAG	p.K1068E	KIAA1377_uc001pgn.2_Missense_Mutation_p.K1024E|KIAA1377_uc010run.1_Missense_Mutation_p.K869E	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	hypothetical protein LOC57562	1068							protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TGAAGAACAGAAGATCCTAGA	0.328													22	39					0	0	0.083992	0	0
LRFN5	145581	broad.mit.edu	37	14	42356999	42356999	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr14:42356999G>C	uc001wvm.2	+	3	2369	c.1171G>C	c.(1171-1173)GAT>CAT	p.D391H	LRFN5_uc010ana.2_Missense_Mutation_p.D391H	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	391	Extracellular (Potential).					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CCATGAGCCTGATCCTGGTTC	0.388										HNSCC(30;0.082)			12	56					0	0	0.080935	0	0
MIR323	442897	broad.mit.edu	37	14	101492098	101492098	+	RNA	SNP	G	A	A			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr14:101492098G>A	hsa-mir-323|MI0000807	+			c.30G>A			uc001yjy.1_RNA|MIR758_hsa-mir-758|MI0003757_5'Flank|MIR329-1_hsa-mir-329-1|MI0001725_5'Flank|MIR329-2_hsa-mir-329-2|MI0001726_5'Flank																	0						GGTCCGTGGCGCGTTCGCTTT	0.537													45	71					0	0	0.139131	0	0
IDH2	3418	broad.mit.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	T	T	rs121913503		TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr15:90631838C>T	uc002box.2	-	4	601	c.515G>A	c.(514-516)AGG>AAG	p.R172K	IDH2_uc010uqb.1_Missense_Mutation_p.R120K|IDH2_uc010uqc.1_Missense_Mutation_p.R42K|IDH2_uc010bnu.2_Intron	NM_002168	NP_002159	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+),	172		Substrate (By similarity).			2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172K(170)|p.R172M(21)|p.R172S(12)|p.R172W(7)|p.R172?(7)|p.R172G(2)		haematopoietic_and_lymphoid_tissue(621)|central_nervous_system(80)|bone(7)|skin(3)	711	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM								27	40					0	0	0.108266	0	0
UNC45A	55898	broad.mit.edu	37	15	91491977	91491977	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr15:91491977G>C	uc002bqg.2	+	13	2171	c.1831G>C	c.(1831-1833)GAG>CAG	p.E611Q	UNC45A_uc002bqd.2_Missense_Mutation_p.E596Q|UNC45A_uc010uqr.1_Missense_Mutation_p.E3Q|UNC45A_uc002bqi.2_5'Flank	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	smooth muscle cell associated protein-1 isoform	611					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CAAGATGGTGGAGCTGGCCAA	0.627													3	11					0	0	0.009096	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	A	A	rs121913343		TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr17:7577121G>A	uc002gim.2	-	8	1011	c.817C>T	c.(817-819)CGT>TGT	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	273	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(467)|p.R273C(396)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(SH10TC_STOMACH)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(RH30_SOFT_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(SJRH30_SOFT_TISSUE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(TT2609C02_THYROID)|R273C(MFE319_ENDOMETRIUM)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(NCIH1048_LUNG)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			16	10					0	0	0.146539	0	0
MYH2	4620	broad.mit.edu	37	17	10440777	10440777	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr17:10440777T>C	uc010coi.2	-	16	1798	c.1670A>G	c.(1669-1671)GAC>GGC	p.D557G	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.D557G|MYH2_uc010coj.2_Missense_Mutation_p.D557G	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	557	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						CAGGTGCTGGTCATACAGCTT	0.527													11	116					0	0	0.080935	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904092	21904092	+	RNA	SNP	C	T	T			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr17:21904092C>T	uc002gza.2	+	1		c.31C>T				NR_027084				Homo sapiens cDNA FLJ36000 fis, clone TESTI2015180.												0						ccacggggtccacaggaacgt	0													3	20					0	0	0.009096	0	0
ELP2	55250	broad.mit.edu	37	18	33739707	33739707	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr18:33739707C>T	uc002kzk.1	+	15	1554	c.1544C>T	c.(1543-1545)GCT>GTT	p.A515V	ELP2_uc010xcg.1_Missense_Mutation_p.A580V|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Missense_Mutation_p.A489V|ELP2_uc010xch.1_Missense_Mutation_p.A510V|ELP2_uc002kzn.1_Missense_Mutation_p.A445V|ELP2_uc002kzo.1_Missense_Mutation_p.A445V	NM_018255	NP_060725	Q6IA86	ELP2_HUMAN	elongator protein 2	515					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				breast(2)|ovary(1)|skin(1)	4						GGAGATATAGCTTCTCAGCCT	0.398													6	72					0	0	0.029380	0	0
FLRT3	23767	broad.mit.edu	37	20	14307457	14307457	+	Silent	SNP	C	T	T			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr20:14307457C>T	uc002wov.1	-	3	1163	c.696G>A	c.(694-696)CTG>CTA	p.L232L	MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Silent_p.L232L	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	232	Extracellular (Potential).|LRR 8.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			kidney(1)	1		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		AATTCCGCACCAGGGACAGCT	0.453													18	46					0	0	0.033300	0	0
TPTE	7179	broad.mit.edu	37	21	10973723	10973723	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr21:10973723C>G	uc002yip.1	-	4	379	c.11G>C	c.(10-12)AGT>ACT	p.S4T	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.S4T|TPTE_uc002yir.1_Missense_Mutation_p.S4T|TPTE_uc010gkv.1_Intron	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	4					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CATAACTCACCTTTCATTCAT	0.348													12	84					0	0	0.033300	0	0
ITIH4	3700	broad.mit.edu	37	3	52848085	52848085	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr3:52848085G>A	uc003dfz.2	-	23	2665	c.2629C>T	c.(2629-2631)CAG>TAG	p.Q877*	uc003dfw.1_5'Flank|ITIH4_uc011bel.1_Nonsense_Mutation_p.Q591*|ITIH4_uc003dfy.2_Nonsense_Mutation_p.Q672*|ITIH4_uc011bem.1_Nonsense_Mutation_p.Q882*|ITIH4_uc011ben.1_Nonsense_Mutation_p.Q847*	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	inter-alpha (globulin) inhibitor H4	877					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TGGTAAAACTGGCCTGAGATA	0.592													9	15					0	0	0.069234	0	0
CCDC52	152185	broad.mit.edu	37	3	113172505	113172505	+	Silent	SNP	C	G	G			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr3:113172505C>G	uc003eag.3	-	14	2241	c.1950G>C	c.(1948-1950)CTG>CTC	p.L650L	CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Silent_p.L546L	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	coiled-coil domain containing 52	650					cell division|mitosis	centriole|spindle	protein binding				0						GCCCATCTCCCAGTACTGGGA	0.453													30	71					0	0	0.144211	0	0
KIAA1211	57482	broad.mit.edu	37	4	57193877	57193877	+	Silent	SNP	G	A	A			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr4:57193877G>A	uc003hbk.2	+	11	4000	c.3609G>A	c.(3607-3609)CCG>CCA	p.P1203P	KIAA1211_uc010iha.2_Silent_p.P1196P	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	1203										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)					TTTCCACCCCGGATGCTGCCC	0.507													53	110					0	0	0.139131	0	0
TRPC3	7222	broad.mit.edu	37	4	122853715	122853715	+	Missense_Mutation	SNP	T	A	A			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr4:122853715T>A	uc003ieg.2	-	2	772	c.698A>T	c.(697-699)GAC>GTC	p.D233V	TRPC3_uc010inr.2_Missense_Mutation_p.D160V|TRPC3_uc003ief.2_Missense_Mutation_p.D160V|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	transient receptor potential cation channel,	148	Cytoplasmic (Potential).|ANK 4.				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						GGGGGTGATGTCCGGCGAGAA	0.617													20	34					0	0	0.055883	0	0
FAT4	79633	broad.mit.edu	37	4	126239920	126239920	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr4:126239920A>G	uc003ifj.3	+	1	2354	c.2354A>G	c.(2353-2355)GAC>GGC	p.D785G		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	785	Cadherin 7.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						ACTGTATTGGACACTCAAGAC	0.448													14	100					0	0	0.105934	0	0
AP3B1	8546	broad.mit.edu	37	5	77473214	77473214	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr5:77473214G>C	uc003kfj.2	-	9	1114	c.989C>G	c.(988-990)TCT>TGT	p.S330C		NM_003664	NP_003655	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1	330					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			central_nervous_system(1)	1		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GCCAGCTTCAGATTTTGGTGA	0.338									Hermansky-Pudlak_syndrome				22	41					0	0	0.125774	0	0
C5orf56	441108	broad.mit.edu	37	5	131822133	131822133	+	Silent	SNP	T	C	C	rs9282763	byFrequency	TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr5:131822133T>C	uc010jds.1	+	4	469	c.294T>C	c.(292-294)CCT>CCC	p.P98P	IRF1_uc003kxd.2_Intron|IRF1_uc003kxa.2_Intron|IRF1_uc003kxb.2_Intron|IRF1_uc010jdt.1_Intron			Q8N8D9	CE056_HUMAN	Homo sapiens full length insert cDNA clone ZA99C08.	Error:Variant_position_missing_in_Q8N8D9_after_alignment											0						TCGAGCGCCCTCCGACCAACC	0.577													3	37					0	0	0.115264	0	0
CDC40	51362	broad.mit.edu	37	6	110533393	110533393	+	Missense_Mutation	SNP	G	T	T			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr6:110533393G>T	uc003pua.2	+	7	809	c.785G>T	c.(784-786)GGT>GTT	p.G262V		NM_015891	NP_056975	O60508	PRP17_HUMAN	cell division cycle 40 homolog	262					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm					0		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		CAGGATGTTGGTGTTAATCTA	0.378													4	74					0.00116845	0.00185241	0.021553	1	0
DYNC1I1	1780	broad.mit.edu	37	7	95657551	95657551	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr7:95657551C>T	uc003uoc.3	+	11	1362	c.1085C>T	c.(1084-1086)TCG>TTG	p.S362L	DYNC1I1_uc003uod.3_Missense_Mutation_p.S345L|DYNC1I1_uc003uob.2_Missense_Mutation_p.S325L|DYNC1I1_uc003uoe.3_Missense_Mutation_p.S342L|DYNC1I1_uc010lfl.2_Missense_Mutation_p.S351L	NM_004411	NP_004402	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	362	WD 2.				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			ovary(3)|kidney(1)	4	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GGGACTTACTCGGGCCAGATT	0.532													47	89					0	0	0.139131	0	0
SPAM1	6677	broad.mit.edu	37	7	123594310	123594310	+	Missense_Mutation	SNP	A	T	T			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr7:123594310A>T	uc003vld.2	+	4	1088	c.686A>T	c.(685-687)TAT>TTT	p.Y229F	SPAM1_uc003vle.2_Missense_Mutation_p.Y229F|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Missense_Mutation_p.Y229F|SPAM1_uc010lku.2_Missense_Mutation_p.Y229F	NM_153189	NP_694859	P38567	HYALP_HUMAN	sperm adhesion molecule 1 isoform 2	229					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			ovary(3)|kidney(1)	4					Hyaluronidase(DB00070)	AACCATCACTATAAGAAACCC	0.388													36	72					0	0	0.059317	0	0
GDAP1	54332	broad.mit.edu	37	8	75274211	75274211	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr8:75274211A>G	uc003yah.2	+	4	656	c.577A>G	c.(577-579)AAA>GAA	p.K193E	GDAP1_uc011lfj.1_Missense_Mutation_p.K78E|GDAP1_uc003yai.2_Missense_Mutation_p.K125E	NM_018972	NP_061845	Q8TB36	GDAP1_HUMAN	ganglioside-induced differentiation-associated	193	GST C-terminal.					cytoplasm					0	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			GAAACGACTTAAAGTAAGCCA	0.358													10	44					0	0	0.058154	0	0
FAM75A6	389730	broad.mit.edu	37	9	43625382	43625382	+	Missense_Mutation	SNP	G	A	A	rs143826416	by1000genomes	TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr9:43625382G>A	uc011lrb.1	-	4	3334	c.3305C>T	c.(3304-3306)CCT>CTT	p.P1102L		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	hypothetical protein LOC389730	1102						integral to membrane					0						CTTGTGAATAGGGGGAAACAT	0.483													9	199					0	0	0.093190	0	0
MUSK	4593	broad.mit.edu	37	9	113547910	113547910	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr9:113547910A>G	uc004bey.2	+	12	1788	c.1690A>G	c.(1690-1692)AAA>GAA	p.K564E	MUSK_uc004bez.1_Missense_Mutation_p.K144E	NM_005592	NP_005583	O15146	MUSK_HUMAN	skeletal muscle receptor tyrosine kinase	564	Cytoplasmic (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|ovary(2)|central_nervous_system(1)	6						TCTGAACCCCAAATTGCTCAG	0.483													65	112					0	0	0.139131	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070969	141070969	+	Silent	SNP	A	G	G			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr9:141070969A>G	uc004com.2	+	4	633	c.372A>G	c.(370-372)GCA>GCG	p.A124A	TUBBP5_uc010ncq.2_3'UTR					RecName: Full=Putative tubulin beta-4q chain;												0						TAGAAAACGCAGATGAGACCT	0.517													3	35					0	0	0.115264	0	0
TUBBP5	643224	broad.mit.edu	37	9	141071110	141071110	+	Silent	SNP	A	G	G			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr9:141071110A>G	uc004com.2	+	4	774	c.513A>G	c.(511-513)CCA>CCG	p.P171P	TUBBP5_uc010ncq.2_3'UTR					RecName: Full=Putative tubulin beta-4q chain;												0						TGCGCTTCCCAGGCCAGCTGA	0.597													3	32					0	0	0.009096	0	0
SSX1	6756	broad.mit.edu	37	X	48125816	48125816	+	Silent	SNP	C	T	T			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chrX:48125816C>T	uc004djb.1	+	7	652	c.561C>T	c.(559-561)GAC>GAT	p.D187D		NM_005635	NP_005626	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity		SS18/SSX1(1169)	soft_tissue(1169)	1169						AGGAAGATGACGAGTAACTCC	0.488													7	97					0	0	0.029380	0	0
COX7B	1349	broad.mit.edu	37	X	77155051	77155051	+	Missense_Mutation	SNP	A	T	T			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chrX:77155051A>T	uc004ecu.1	+	1	91	c.1A>T	c.(1-3)ATG>TTG	p.M1L		NM_001866	NP_001857	P24311	COX7B_HUMAN	cytochrome c oxidase subunit VIIb precursor	1					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity				0						CACCTTCACGATGTTTCCCTT	0.443													10	3					0	0	0.069234	0	0
PCDH19	57526	broad.mit.edu	37	X	99662028	99662028	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chrX:99662028T>C	uc010nmz.2	-	1	3244	c.1568A>G	c.(1567-1569)CAC>CGC	p.H523R	PCDH19_uc004efw.3_Missense_Mutation_p.H523R|PCDH19_uc004efx.3_Missense_Mutation_p.H523R	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	523	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						GGTCTGCTCGTGGTTAAAGGA	0.582													42	26					0	0	0.117977	0	0
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	Frame_Shift_Ins	INS	-	AGCT	AGCT	rs141324796	by1000genomes	TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr1:17034125_17034126insAGCT	uc001azn.1	-	3	478_479	c.364_365insAGCT	c.(364-366)TGGfs	p.W122fs	ESPNP_uc010ocj.1_Frame_Shift_Ins_p.W52fs	NR_026567				RecName: Full=Espin; AltName: Full=Ectoplasmic specialization protein; AltName: Full=Autosomal recessive deafness type 36 protein;												0						CAGCAGCAGCCAGCTGAGCACC	0.663													3	5	---	---	---	---					
MUSK	4593	broad.mit.edu	37	9	113457754	113457754	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr9:113457754delA	uc004bey.2	+	4	528	c.430delA	c.(430-432)ACAfs	p.T144fs	MUSK_uc004bex.2_Frame_Shift_Del_p.T144fs	NM_005592	NP_005583	O15146	MUSK_HUMAN	skeletal muscle receptor tyrosine kinase	144	Ig-like 2.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|ovary(2)|central_nervous_system(1)	6						ACCATGTACTACAATGGGTAA	0.328													2	4	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76939347	76939348	+	Frame_Shift_Del	DEL	TT	-	-			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chrX:76939347_76939348delTT	uc004ecp.3	-	9	1632_1633	c.1400_1401delAA	c.(1399-1401)AAAfs	p.K467fs	ATRX_uc004ecq.3_Frame_Shift_Del_p.K429fs|ATRX_uc004eco.3_Frame_Shift_Del_p.K252fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K428fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.K467fs|ATRX_uc010nly.1_Frame_Shift_Del_p.K412fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	467					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	TATCTACCTGTTTTCTTGAAAG	0.356			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						103	67	---	---	---	---					
